Search Results - "Midro, Alina T"

Chromosome (re)positioning in spermatozoa of fathers and sons - carriers of reciprocal chromosome translocation (RCT) by Olszewska, Marta, Wiland, Ewa, Huleyuk, Nataliya, Fraczek, Monika, Midro, Alina T, Zastavna, Danuta, Kurpisz, Maciej

“…Non-random chromosome positioning has been observed in the nuclei of several different tissue types, including human spermatozoa. The nuclear arrangement of…”
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Limited survivability of unbalanced progeny of carriers of a unique t(4;19)(p15.32;p13.3): a study in multiple generations by Šumanović-Glamuzina, Darinka, Lozić, Bernarda, Iwanowski, Piotr S, Zemunik, Tatijana, Bilinovac, Zeljka, Stasiewicz-Jarocka, Beata, Panasiuk, Barbara, Midro, Alina T

“…Carriership of a reciprocal chromosomal translocation (RCT) involving the short arm of chromosome 4 (4p) may result in birth of a child with Wolf-Hirschhorn…”
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Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter by Iwanowski, Piotr S., Panasiuk, Barbara, Van Buggenhout, Griet, Murdolo, Marina, Myśliwiec, Marta, Maas, Nicole M.C., Lattante, Serena, Korniszewski, Lech, Posmyk, Renata, Pilch, Jacek, Zajączek, Stanislaw, Fryns, Jean-Pierre, Zollino, Marcella, Midro, Alina T.

“…The aim of this study was to obtain a quantitative definition of Wolf–Hirschhorn syndrome (WHS) through systematic phenotypic analyses in a group of six…”
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Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies by Glinton, Kevin E., Hurst, Anna C. E., Bowling, Kevin M., Cristian, Ingrid, Haynes, Devon, Adstamongkonkul, Dusit, Schnappauf, Oskar, Beck, David B., Brewer, Carole, Parikh, Aditi Shah, Shinde, Deepali N., Donaldson, Alan, Brautbar, Ariel, Koene, Saskia, Haeringen, Arie, Piton, Amélie, Capri, Yline, Furlan, Margherita, Gardella, Elena, Møller, Rikke Steensbjerre, Beek, Irma, Zuurbier, Linda, Lakeman, Phillis, Bayat, Allan, Martinez, Julian, Signer, Rebecca, Torring, Pernille M., Engelund, Morten Buch, Gripp, Karen W., Amlie‐Wolf, Louise, Henderson, Lindsay B., Midro, Alina T., Tarasów, Eugeniusz, Stasiewicz‐Jarocka, Beata, Moskal‐Jasinska, Diana, Vos, Paul, Boschann, Felix, Stoltenburg, Corinna, Puk, Oliver, Mero, Inger‐Lise, Lossius, Kristine, Mignot, Cyril, Keren, Boris, Acosta Guio, Johanna C., Briceño, Ignacio, Gomez, Alberto, Yang, Yaping, Stankiewicz, Pawel

“…Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech…”
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Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene by Midro, Alina T., Stasiewicz‐Jarocka, Beata, Borys, Jan, Hubert, Ewa, Skotnicka, Bożena, Hassmann‐Poznańska, Elżbieta, Sierpińska, Teresa, Panasiuk, Barbara, Schanze, Denny, Zenker, Martin

“…We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic…”
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome by Midro, Alina T., Tommerup, Niels, Borys, Jan, Panasiuk, Barbara, Kosztyła‐Hojna, Bożena, Zalewska, Renata, Konstantynowicz, Jerzy, Łebkowska, Urszula, Cooper, Lance, Scherer, Steven E., Mehrjouy, Manna M., Liu, Qian, Skowroński, Rafał, Stankiewicz, Paweł

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A 23‐year follow‐up of a male with Hajdu‐Cheney syndrome due to NOTCH2 mutation by Midro, Alina T., Stasiewicz‐Jarocka, Beata, Borys, Jan, Kozłowski, Kazimierz, Skotnicka, Bożena, Tarasów, Eugeniusz, Hubert, Ewa, Konstantynowicz, Jerzy, Panasiuk, Barbara, Rydzanicz, Małgorzata, Pollak, Agnieszka, Stawiński, Piotr, Skowroński, Rafał, Płoski, Rafał

“…We present a natural history of a 32‐year‐old man with Hajdu‐Cheney syndrome (HJCYS), because of the de novo truncating mutation in the exon 34 of NOTCH2…”
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Clonal chromosomal aberrations in philadelphia negative cells such as monosomy 7 and trisomy 8 may persist for years with no impact on the long term outcome in patients with chronic myeloid leukemia by Wasilewska, Ewa M, Panasiuk, Barbara, Gniot, Michał, Sawicka, Anna, Kozlowska, Katarzyna, Lewandowski, Krzysztof, Kłoczko, Janusz, Midro, Alina T

“…Highlights • Clonal chromosomal aberrations in Philadelphia negative cells (CCA/Ph-) may persist for years. • Monosomy 7 developed during treatment of chronic…”
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Construction of a Detailed Physical and Transcript Map of the Candidate Region for Russell–Silver Syndrome on Chromosome 17q23–q24 by Dörr, Sylvia, Midro, Alina T., Färber, Claudia, Giannakudis, Joannis, Hansmann, Ingo

“…Russell–Silver syndrome (RSS) is a heterogeneous disorder characterized mainly by pre- and postnatal growth retardation and characteristic dysmorphic features…”
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Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1 by Midro, Alina T., Zollino, Marcella, Wiland, Ewa, Panasiuk, Barbara, Iwanowski, Piotr S., Murdolo, Marina, Śmigiel, Robert, Sąsiadek, Maria, Pilch, Jacek, Kurpisz, Maciej

“…Purpose The purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome…”
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Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures by Lazarczyk, Ewelina, Drozniewska, Malgorzata, Pasinska, Magdalena, Stasiewicz-Jarocka, Beata, Midro, Alina T, Haus, Olga

“…Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths,…”
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Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B by Myśliwiec, Marta, Panasiuk, Barbara, Dębiec-Rychter, Maria, Iwanowski, Piotr Sebastian, Łebkowska, Urszula, Nowakowska, Beata, Marcinkowska, Anna, Stankiewicz, Pawel, Midro, Alina T.

“…The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal…”
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Chromatin structure analysis of spermatozoa from reciprocal chromosome translocation (RCT) carriers with known meiotic segregation patterns by Olszewska, Marta, Fraczek, Monika, Huleyuk, Nataliya, Czernikiewicz, Anna, Wiland, Ewa, Boksa, Magdalena, Zastavna, Danuta, Panasiuk, Barbara, Midro, Alina T, Kurpisz, Maciej

“…Abstract The presence of reciprocal chromosome translocations (RCTs), as well as sperm chromatin disturbances, is known to exert negative influence on male…”
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Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees by Engels, Hartmut, Eggermann, Thomas, Caliebe, Almut, Jelska, Anna, Schubert, Regine, Schüler, Herdit M., Panasiuk, Barbara, Zaremba, Jacek, Latos-Bieleńska, Anna, Jakubowski, Lucjusz, Zerres, Klaus P., Schwanitz, Gesa, Midro, Alina T.

“…Robertsonian translocations 13/14 are the most common chromosome rearrangements in humans. However, most studies aimed at determining risk figures are more…”
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Cytogenetic and molecular analyses of de novo translocation dic(9;13)(p11.2;p12) in an infertile male by Wiland, Ewa, Olszewska, Marta, Georgiadis, Andrew, Huleyuk, Nataliya, Panasiuk, Barbara, Zastavna, Danuta, Yatsenko, Svetlana A, Jedrzejczak, Piotr, Midro, Alina T, Yatsenko, Alexander N, Kurpisz, Maciej

“…Whole arm t(9;13)(p11;p12) translocations are rare and have been described only a few times; all of the previously reported cases were familial. We present…”
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Searching for Tourette's syndrome gene. Part 2. Patient's genome variability by Kowalska, Anna, Midro, Alina T, Janik, Piotr, Gogol, Anna, Służewski, Wojciech, Rajewski, Andrzej

“…Gilles de la Tourette syndrome (GTS) is a complex, heterozygous genetic disorder. Twenty chromosomal rearrangements (7q22-q31, 8q13-q22, and 18q22) indicating…”
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Searching for Tourette's syndrome gene. Part 1. Heterogeneity of clinical phenotypes by Kowalska, Anna, Midro, Alina T, Janik, Piotr, Gogol, Anna, Służewski, Wojciech, Rajewski, Andrzej

“…The French neuropsychiatrist Georges Gilles de la Tourette described in 1885 the "Maladie des Tics" which later was named after him, as Gilles de la Tourette…”
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Risk estimation of different pregnancy outcomes in the families of carriers of reciprocal chromosomal translocations involving chromosome 20 by Stasiewicz-Jarocka, Beata, Kozaczuk, Milena, Panasiuk, Barbara, Jamsheer, Aleksander, Latos-Bieleńska, Anna, Midro, Alina T

“…Carriership of reciprocal chromosome translocation (RCT) in a family may be the reason for malformation at birth, stillbirth, early neonatal death, and…”
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Probability rate of unbalanced offspring at birth and risk of unfavorable pregnancy outcomes in families of carriers of chromosomal reciprocal translocations involving chromosome 7 by Kozłowska, Katarzyna, Panasiuk, Barbara, Stasiewicz-Jarocka, Beata, Lurie, Iosif W, Chrzanowska, Krystyna, Lenkiewicz, Marzena, Gutkowska, Anna, Iliszko, Mariola, Midro, Alina T

“…Carriership of reciprocal chromosomal translocation (RCT) may be the reason the occurrence of congenital malformations in the offspring, early neonatal death,…”
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Risk evaluation of carriers with chromosome reciprocal translocation t(7;13)(q34;q13) and concomitant meiotic segregation analyzed by FISH on ejaculated spermatozoa by Midro, Alina T., Wiland, Ewa, Panasiuk, Barbara, Leśniewicz, Ryszard, Kurpisz, Maciej

“…We performed the segregation analysis of a relatively large pedigree of t(7;13)(q34;q13) carriers together with the sperm karyotype analysis of the one carrier…”
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